Top Trending Stories

Search Releases

MIND Institute launches "Colombia Project of Hope"

Researchers at the internationally respected UC Davis MIND Institute are collaborating with scientists at two Colombian universities to investigate the very high rate of fragile X-related disorders in one region in the South American country.

Photograph of Ricuarte, Columbia

Named the "Colombia Project of Hope," the initiative aims to advance fragile X research and benefit individuals with fragile X-related disorders in the United States and around the world by focusing on a recently identified fragile X "hotspot" in Colombia.

In November 2013, fragile X researchers led by internationally known fragile X investigator and MIND Institute Medical Director Randi Hagerman, visited the Valle del Cauca District and the small town of Ricaurte, which for years has been known to have a very high prevalence of individuals with intellectual disability, formerly termed mental retardation.

“Our goal is to advance fragile X research worldwide by turning Ricaurte from a village of despair to a village of hope with new treatments for fragile X syndrome and related disorders,” Hagerman said.

Hagerman and her team screened many of Ricaurte’s residents, using a diagnostic test developed by Flora Tassone, UC Davis professor of biochemistry and molecular medicine. Conducted in partnership with the Colombian scientists, the testing found a very high incidence of fragile-X related mutations among the population — the reason for the region’s high levels of intellectual disability and the solution to a decades-old medical mystery.

The term “fragile X” is used to describe the altered appearance of the X chromosome among sufferers from the constellation of conditions associated with defects in a gene called FMR1. The defect causes disorders such as fragile X syndrome, the leading cause of intellectual disability and the leading known single-gene cause of autism, and a Parkinson’s disease-like condition in adults called fragile X-associated tremor/ataxia syndrome, or FXTAS. The U.S. Centers for Disease Control and Prevention (CDC) estimates that about 1 in 4,000 males and 1 in 6,000 to 8,000 females in the United States have fragile X syndrome.

The Colombia Project of Hope

After determining the high incidence of fragile X disorders in and around Ricaurte, the MIND Institute investigators determined that researching this fragile X hotspot could offer additional clues to the development of fragile X and its incidence in other populations around the world. They determined to approach the initiative through collaborating with their colleagues at research institutions in Bogota and Cali. The Colombia Project of Hope was born. The project’s aims are to:

Screen for fragile X mutations in larger populations in Colombia to determine the prevalence of fragile X syndrome in Ricaurte and throughout the country

Initiate outreach programs addressing treatments from the medical, educational and family viewpoints for those who test positive

The partnership includes the MIND Institute clinicians and researchers who visited Colombia and their in-country collaborators, as well as Sergio Villada, president of the Special Kids Foundation in Miami, who organized the first Colombia visit in November 2013, spearheading establishment of the Asociación X Frágil Colombia.

The UC Davis MIND Institute in Sacramento, Calif., was founded in 1998 as a unique interdisciplinary research center where families, community leaders, researchers, clinicians and volunteers work together toward a common goal: researching causes, treatments and eventual preventions and cures for neurodevelopmental disorders. The institute has major research efforts in autism, fragile X syndrome, chromosome 22q11.2 deletion syndrome, attention-deficit/hyperactivity disorder (ADHD) and Down syndrome. More information about the institute and its Distinguished Lecturer Series, including previous presentations in this series, is available on the Web at mindinstitute.ucdavis.edu.